A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region
Author:
Affiliation:
1. Department of Ophthalmology, Health Sciences University of Hokkaido, Sapporo, Hokkaido, Japan
2. Department of Medical Genetics and Genomics, Sapporo Medical University, Sapporo, Hokkaido Japan
3. Altif Laboratories Inc., Tokyo, Japan
Funder
Japan Agency for Medical Research and Development (AMED) and Initiative on Rare and Undiagnosed Diseases
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1821383
Reference36 articles.
1. Hereditary Macular Dystrophy without Visible Fundus Abnormality
2. Occult macular dystrophy
3. Multifocal electroretinography in patients with occult macular dystrophy
4. CLINICAL CHARACTERISTICS OF OCCULT MACULAR DYSTROPHY IN FAMILY WITH MUTATION OF RP1L1 GENE
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